Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000034623 Individual ID 00047261 Associated disease WVS Diagnosis/Initial - Diagnosis/Definite - Phenotype details Accelerated osseous maturation Hoarse, low-pitched cry Intellectual disability (bordeline-mild) Excessive appetite Poor fine motor coordination Poor balance and gravitational insecurity Macrocephaly Large bifrontal diameter Large ears Ocular hypertelorism Downslanted palpebral fissures Long philtrum Retrognathia Prominent digit pads Camptodactyly Broad thumbs Thin, deep-set nails Clinodactyly, toes Excessive loose skin Increased pigmented nevi Umbilical hernia Scoliosis (10 degrees) Inheritance Isolated (sporadic) Age/Examination - Age/Onset - Phenotype/Onset - Age/Diagnosis - Growth overgrowth prenatal Hypotonia hypotonia Protein - Owner name Ana Cohen Database submission license No license selected Created by William Gibson Date created 2013-12-29 07:04:33 +01:00 (CET) Date last edited 2013-12-29 07:30:33 +01:00 (CET)

Screenscraping/webscraping (interacting with LOVD using scripts to download data) is strictly prohibited.
Use our APIs to retrieve data.